Figure 2 of Iqbal, Mol Vis 2020; 26:334-344.


Figure 2. Bidirectional Sanger sequencing identified mutations in FYCO1 in chromosome 3p21-linked pedigrees. A, B: Forward and reverse sequence chromatograms of individual 18 (unaffected) harboring the wild-type allele and individual 11 (affected) homozygous for a single base change: c.4270C>T (p.Arg1424Ter) in PKCC193. C, D: Forward and reverse sequence chromatograms of individual 7 (unaffected) harboring the wild-type allele and individual 10 (affected) homozygous for a single base deletion: c.3196delC (p.His1066IlefsTer10) in PKCC202. E, F: Forward and reverse sequence chromatograms of individual 6 (unaffected) heterozygous for a single base change and individual 7 (affected) homozygous for a single base substitution: c.4127T>C (p.Leu1376Pro) in PKCC220. Note: The arrows point to the base-pair substitution or deletion identified in each pedigree.